Spinocerebellar Ataxia 17 Presenting with Childhood Seizures and Mesial Temporal Lobe Sclerosis
Objective: To report an unusual phenotype of spinocerebellar ataxia 17 (SCA17) with childhood onset epilepsy evolving into asymmetric motor impairment with features of dystonia and…Turning Points in Disease Progression: Detecting MRI Biomarker Transitions in SCA3 Using Longitudinal Data
Objective: This study aims to identify data-driven turning points in MRI biomarkers of SCA3 to characterize region-specific disease transitions and inform early intervention strategies. Background: SCA3…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…Ataxia, the initial symptom in a patient with Huntington’s Disease and Acquired (non-Wilsonian) Hepatocerebral Degeneration
Objective: To describe a patient with Huntington disease and acquired (non-Wilsonian) hepatocerebral degeneration (AHD) presenting with ataxia. Background: AHD is a neurological disorder that occurs…Upper Limb Tremor Suppression Using Targeted High Frequency Peripheral Nerve Stimulation
Objective: In this work, we aimed to suppress wrist tremors in individuals affected by Parkinson's disease (PD) and essential tremor (ET) using targeted, high frequency…Staged Bilateral MRI-Guided Focused Ultrasound Thalamotomy in Essential Tremor a Single Institution Experience of 26 Patients
Objective: We describe tremor outcomes, adverse effects, and impact to quality of life after staged bilateral MRI-Guided Focused Ultrasound (MRgFUS) Thalamotomy for Essential Tremor. Background:…Subthalamotomy and thalamotomy using MgFUS: Retrospective review of 9 years of treating Parkinson’s disease and Essential Tremor.
Objective: To report a 9-year single-center experience using MRgFUS thermoablation for movement disorders. Background: Over 22000 patients with Essential Tremor (ET), Parkinson´s disease (PD) and…Personalised Success: Evaluating Hemifacial Spasm Treatment with Goal Attainment Scale
Objective: To assess the effectiveness of botulinum toxin A (BoNTA) therapy in treating hemifacial spasm (HFS) patients using Goal Attainment Scale (GAS). Background: HFS is…A RNF213 truncating variant causes an autosomal dominant disorder with brainstem and basal ganglia lesions and a Huntington-like phenotype
Objective: To report a novel stop-gain variant in the RNF213 gene in two individuals, a father and son, presenting with variable neurologic presentations and similar…Constructing a multicenter neuroimaging dataset to unveil structural brain alterations in GNAO1-related disorders
Objective: This study aims to construct a reliable neuroimaging dataset to assess the impact of GNAO1 mutations on brain development. Background: GNAO1-related disorders (GNAO1-RD) are…
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